1172844009: Combined oxidative phosphorylation defect type 27 (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Combined oxidative phosphorylation defect type 27
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Combined oxidative phosphorylation defect type 27
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Combined oxidative phosphorylation defect type 27
• \affection de la tête\Disorder of brain (disorder)\Combined oxidative phosphorylation defect type 27
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Combined oxidative phosphorylation defect type 27
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 27
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Combined oxidative phosphorylation defect type 27
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\affection de la tête\Disorder of brain (disorder)\Combined oxidative phosphorylation defect type 27
• \Disease\trouble métabolique\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 27
• \Disease\trouble métabolique\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Combined oxidative phosphorylation defect type 27
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 27
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Combined oxidative phosphorylation defect type 27
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 27

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4636178011	Combined oxidative phosphorylation defect type 27	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636179015	Combined oxidative phosphorylation defect type 27 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636180017	COXPD27 - combined oxidative phosphorylation defect type 27	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4636181018	A rare mitochondrial oxidative phosphorylation disorder with a variable clinical phenotype. Manifestations include infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder and liver involvement along with childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment and progressive tetraparesis. Serum lactate may be increased and brain imaging shows variable atrophy and white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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